ClinVar Miner

Submissions for variant NM_003235.5(TG):c.5686+1G>T

gnomAD frequency: 0.00001  dbSNP: rs374620255
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001858452 SCV002289996 pathogenic not provided 2024-01-19 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 30 of the TG gene. RNA analysis indicates that disruption of this splice site induces altered splicing and likely results in a shortened protein product. This variant is present in population databases (no rsID available, gnomAD 0.006%). Disruption of this splice site has been observed in individuals with clinical features of congenital hypothyroidism (PMID: 7593451, 11484898, 16720658, 23457313). ClinVar contains an entry for this variant (Variation ID: 684547). Studies have shown that disruption of this splice site results in skipping of exon 30, but is expected to preserve the integrity of the reading-frame (PMID: 7593451, 11484898, 23457313). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV002223175 SCV000033776 pathogenic Iodotyrosyl coupling defect 1995-11-01 no assertion criteria provided literature only
GenomeConnect, ClinGen RCV000845082 SCV000986930 not provided Congenital hypothyroidism no assertion provided phenotyping only Variant interpretted as Likely pathogenic and reported on 07/26/2017 by GTR ID 500031. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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